Variant report

Variant	esv12249
Chromosome Location	chr6:48840995-48846579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 281 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191160076	chr6:48841023-48841024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530468026	chr6:48841085-48841086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548587750	chr6:48841114-48841115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372233424	chr6:48841183-48841184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374235549	chr6:48841198-48841199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533951931	chr6:48841203-48841204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558487104	chr6:48841268-48841269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532156546	chr6:48841310-48841311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148385974	chr6:48841326-48841327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570619478	chr6:48841335-48841336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376604440	chr6:48841337-48841338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537901368	chr6:48841366-48841367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62413163	chr6:48841377-48841378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs372227581	chr6:48841382-48841383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs55717632	chr6:48841384-48841385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542141746	chr6:48841385-48841386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183294762	chr6:48841390-48841391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555253680	chr6:48841455-48841456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141519137	chr6:48841465-48841466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185163319	chr6:48841473-48841474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528340047	chr6:48841489-48841490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555761779	chr6:48841505-48841506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528479257	chr6:48841511-48841512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9395416	chr6:48841545-48841546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531481976	chr6:48841572-48841573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543144540	chr6:48841622-48841623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563134642	chr6:48841641-48841642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374543696	chr6:48841643-48841644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530213954	chr6:48841661-48841662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574308726	chr6:48841666-48841667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368557484	chr6:48841669-48841670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189916879	chr6:48841686-48841687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113141261	chr6:48841706-48841707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527936516	chr6:48841726-48841727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564415443	chr6:48841761-48841762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556125541	chr6:48841763-48841764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114377580	chr6:48841802-48841803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183289501	chr6:48841845-48841846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538376540	chr6:48841861-48841862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114716876	chr6:48841867-48841868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568513190	chr6:48841875-48841876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369054441	chr6:48841879-48841880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372546329	chr6:48841896-48841897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553892331	chr6:48841907-48841908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567550438	chr6:48841909-48841910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10948447	chr6:48841940-48841941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs546117644	chr6:48841941-48841942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187813391	chr6:48841958-48841959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540808139	chr6:48841961-48841962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576095045	chr6:48841989-48841990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48832200-48944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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